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SNV:13-51946333-T-C (GRCh38)
Dataset
- gnomAD v3.1.2
- GRCh38
- gnomAD v4.1.0807,162 samples
- gnomAD v4.1.0 (non-UKB)314,392 samples
- gnomAD v3.1.276,156 samples
- gnomAD v3.1.2 (non-cancer)74,023 samples
- gnomAD v3.1.2 (non-neuro)67,442 samples
- gnomAD v3.1.2 (non-v2)57,344 samples
- gnomAD v3.1.2 (non-TOPMed)40,433 samples
- gnomAD v3.1.2 (controls/biobanks)16,465 samples
- GRCh37
- gnomAD v2.1.1141,456 samples
- gnomAD v2.1.1 (non-TOPMed)135,743 samples
- gnomAD v2.1.1 (non-cancer)134,187 samples
- gnomAD v2.1.1 (non-neuro)114,704 samples
- gnomAD v2.1.1 (controls)60,146 samples
| Genomes | |
|---|---|
| Filters | Pass |
| Allele Count | 1 |
| Allele Number | 152250 |
| Allele Frequency | 0.000006568 |
| Grpmax Filtering AF (95% confidence) | — |
| Number of homozygotes | 0 |
| Mean depth of coverage | 32.1 |
External Resources
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Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 1 | 68046 | 0 | 0.00001470 | ||
| 0 | 10624 | 0 | 0.000 | ||
| 0 | 15286 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 5194 | 0 | 0.000 | ||
| 0 | 316 | 0 | 0.000 | ||
| 0 | 41474 | 0 | 0.000 | ||
| 0 | 4834 | 0 | 0.000 | ||
| 0 | 3472 | 0 | 0.000 | ||
| 0 | 2092 | 0 | 0.000 | ||
| XX | 1 | 77862 | 0 | 0.00001284 | |
| XY | 0 | 74388 | 0 | 0.000 | |
| Total | 1 | 152250 | 0 | 0.000006568 | |
Include:
Related Variants
Nearby Variants
Ensembl Variant Effect Predictor
This variant falls on 17 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
missense
ATP7B
- ENST00000242839.10MANE Select transcript for ATP7B
- HGVSp
- p.Gln1004Arg
- Domains
- Polyphen
- possibly_damaging
- SIFT
- tolerated
- ENST00000344297.9
- HGVSp
- p.Gln797Arg
- Domains
- cd02094 (CDD)
- Polyphen
- probably_damaging
- SIFT
- deleterious
- ENST00000400366.6
- HGVSp
- p.Gln893Arg
- Domains
- Polyphen
- benign
- SIFT
- tolerated
- ENST00000242839.10
intron
ATP7B
- ENST00000418097.7
- HGVSc
- c.2866-2042A>G
- ENST00000418097.7
non coding transcript exon
ATP7B
- ENST00000466629.1
- HGVSc
- n.231A>G
- ENST00000634620.1
- HGVSc
- n.3755A>G
- ENST00000634810.1
- HGVSc
- n.2356A>G
- ENST00000466629.1
3' UTR
ATP7B
- ENST00000634296.1
- HGVSc
- c.*844A>G
- ENST00000634308.1
- HGVSc
- c.*112A>G
- ENST00000634296.1
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- REVEL: 0.650
- CADD: 20.8
- SpliceAI: 0.0100 (donor_gain)
- PrimateAI: 0.733
Genomic Constraint of Surrounding 1kb Region
This variant does not have non coding constraint data for the surrounding region.ClinVar
- ClinVar Variation ID
- 3072807
- Conditions
- Wilson disease, not specified
- Germline classification
- Uncertain significance
- Review status
- criteria provided, multiple submitters, no conflicts (2 stars)
- Last evaluated
- April 12, 2024
or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.
Age Distribution
- Exome
- Genome
- Variant carriers
- All individuals
Genotype Quality Metrics
- Genotype quality
- Depth
- Allele balance for heterozygotes
- Exome
- Genome
- Variant carriers
- All individuals
Site Quality Metrics
- Metric distribution
- All metric values
- Exome
- Genome
Value: 5.200e+2 (genome samples)
Site quality approximation for all singleton variants.
Read Data
Always load read data